ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp) (rs2229035)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123849 SCV000167192 benign not specified 2014-02-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000858184 SCV000283131 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000123849 SCV000340424 benign not specified 2016-03-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000123849 SCV000593637 likely benign not specified 2017-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000572905 SCV000672888 likely benign Hereditary cancer-predisposing syndrome 2017-11-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
Counsyl RCV000230670 SCV000794567 likely benign Bloom syndrome 2017-09-29 criteria provided, single submitter clinical testing

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